{
    "disease_id": "DOID:0110595",
    "recommended_name": {
        "id": "DOID:0110595",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110595",
        "name": "Stromme syndrome",
        "description": "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41."
    },
    "synonyms": [
        {
            "id": "DOID:0110595",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110595",
            "name": "apple peel syndrome with microcephaly and ocular anomalies",
            "description": ""
        },
        {
            "id": "DOID:0110595",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110595",
            "name": "CILD31",
            "description": ""
        },
        {
            "id": "DOID:0110595",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110595",
            "name": "jejunal atresia with microcephaly and ocular anomalies",
            "description": ""
        },
        {
            "id": "DOID:0110595",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110595",
            "name": "primary ciliary dyskinesia 31",
            "description": ""
        },
        {
            "id": "DOID:0110595",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110595",
            "name": "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "Stromme syndrome",
            "description": "Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016)."
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "primary ciliary dyskinesia 31",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "apple peel syndrome with microcephaly and ocular anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "ciliary dyskinesia, primary, 31",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "STROMS",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "Stromme syndrome; STROMS",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "jejunal atresia-microcephaly-ocular anomalies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "CILD31",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "Stromme syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "jejunal atresia with microcephaly and ocular anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "ciliary dyskinesia, primary, 31, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "ciliary dyskinesia, primary, type 31",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "ciliary dyskinesia, primary, 31; CILD31",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "Stromme syndrome",
            "description": "Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016)."
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "primary ciliary dyskinesia 31",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "apple peel syndrome with microcephaly and ocular anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "ciliary dyskinesia, primary, 31",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "STROMS",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "Stromme syndrome; STROMS",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "jejunal atresia-microcephaly-ocular anomalies syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "CILD31",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "Stromme syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "jejunal atresia with microcephaly and ocular anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "ciliary dyskinesia, primary, 31, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "ciliary dyskinesia, primary, type 31",
            "description": ""
        },
        {
            "id": "MONDO:0009477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009477",
            "name": "ciliary dyskinesia, primary, 31; CILD31",
            "description": ""
        },
        {
            "id": "MIM:243605",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/243605",
            "name": "Stromme syndrome",
            "description": "Stromme syndrome"
        }
    ]
}